Call for patients: highlighted research projects

Call for patients

Please also visit our active research collaborations page for more opportunities for you and your patients to participate in research studies.

MyLifeMyVoice study

The MyLifeMyVoice study seeks to describe the current health and wellbeing of teenagers living with NMD in Australia and New Zealand, and explore what teenagers think and feel about engagement in their health care.

This study involves a questionnaire that can be completed with the help of a study volunteer. A few teenagers are also participating in interviews.

Patient organisations and children’s hospital Neuromuscular Clinics are sending information flyers to 14-19 year old teenagers with NMD who are wheelchair users. Teens can opt in directly to the MyLifeMyVoice study by e-mail to mylifemyvoice@nd.edu.au or by sms to +61 415 301 635.

For more information, have a browse of www.mylifemyvoice.org

Study team:
Vivienne Travlos, PhD student & Physiotherapist, University of Notre Dame Australia,
Assoc Prof Shane Patman, Physiotherapist, University of Notre Dame Australia
Dr Jenny Downs, Physiotherapist, Telethon Kids Institute
Dr Andrew Wilson, Respiratory Physician, Princess Margaret Hospital for Children

Slowly progressive congenital muscular dystrophy

We are interested to hear from clinicians or families with individuals affected by slowly progressive congenital muscular dystrophy with onset < 5 years of age.

We are looking for individuals with muscle weakness who have had delay of gross motor milestones, but who have achieved the ability to walk independently.  Affected individuals have had a slowly progressive with deterioration from the 2nd or 3rd decade.  They also developed spinal rigidity or kyphoscolisosis and restrictive lung disease from the second decade.   Swallowing difficulties and velopharyngeal incompetence were prominent in one family.  There was no facial involvement or ophthalmoplegia and cognition was normal.  CK was normal to moderately elevated.  EMG was mildly myopathic.  Muscle biopsy showed mild dystrophic changes.  Inheritance was autosomal recessive.

If you have patients with similar features, please be in contact for further information.  We are interested in obtaining a DNA sample to sequence two different genes.

Please contact gina.ogrady@health.nsw.gov.au or nigel.clarke@health.nsw.gov.au for further information.

Autosomal Recessive Distal Arthrogryposis with distinctive features

Professor Muntoni and his group would be pleased to receive DNA samples from families with autosomal recessive arthrogryposis with distinctive facial features. The patients have mild learning difficulty but normal brain imaging. There may be ptosis (but not always), prominent eyes, and a deep central furrow in the tongue. Some patients have cleft palate. There is facial weakness and mild proximal muscle weakness. Boys have cryptorchidism. Finger flexion contractures are severe affecting 2nd and 3rd fingers and thumbs may be adducted. Lower limb contractures of knee with limitation of flexion and extension, following extended breech position at birth, are a feature. Deep tendon reflexes are reduced. Neurophysiology is myopathic with no SFEMG abnormalities. CK is normal. Muscle biopsy may show type 1 fibre predominance and mini-cores.

For more information please contact: f.muntoni@ich.ucl.ac.uk

Cerebellar ataxia with prominent motor and sensory neuropathy and chronic cough

We are conducting genetic analyses on the following family with a syndrome of cerebellar ataxia with prominent motor and sensory neuropathy and chronic cough and are searching for any similar families to help confirm our research findings.

Do you know of a patient or family with a similarpresentation to that described below?

  • Clinical presentation: Two affected brothers presented in their mid 50s with weakness about the ankles, poor balance and a chronic cough. There were cerebellar signs with saccadic interruption of eye movements and a wide-based gait, and later on dysarthria.
  • The mode of inheritance is probably recessive (parents consanguineous), but could be dominant (germline de novo).
  • Creatine kinase levels were elevated (as high as 580 and 1020).
  • Nerve conduction studies indicated a severe sensorimotor peripheral neuropathy, at least as prominent as the cerebellar ataxia.
  • Muscle biopsies exhibit numerous atrophic fibres and group atrophy, in keeping with a neurogenic cause.
  • Electron microscopy displayed subsarcolemmal accumulation of pleomorphic mitochondria with large electron dense inclusions.
  • MRI of the head showed progressive atrophy of the cerebellum, principally of the vermis, and thinning of the brainstem.

 We would be very keen to hear from you if you do.

Please contact A/Prof Phillpa Lamont via email or call her on +61-8-9224 3353

Dominant SMA/Hereditary Motor Neuropathy for genetic testing

We are keen to ascertain families with dominant SMA for a gene discovery project through the Institute for Neuroscience and Muscle Research (INMR), Sydney.

Exome sequencing has recently enabled us to identify a very likely new Dominant Congenital SMA (DCSMA) gene – in a family we have been working with and studying for quite some time. The clinical features in this family are lower limb predominant – and are summarised in our recent journal article in Brain (click here to view the article). We are keen to find other families with mutations in this gene and we canoffer research-based Sanger sequencing of this gene to any Australasian clinicians who have patients with similar features.

If you have patients or families who would be eligible for this collaborative study, please contact Dr Emily Oates.

Phase III Ataluren trial

A  new phase 3 trial of Ataluren (PTC124) for nonsense-mediated Duchenne MD is about to start in Melbourne at the Royal Children’s Hospital, and in Sydney at the Children’s Hospital at Westmead.

The trial is a large international double-blind randomised controlled study of 220 subjects from centres in Australia, the US, South America and Europe.

Ataluren is given orally three times a day. Side-effects are minimal/none.

The two centres in Melbourne and Sydney are interested in recruiting subjects from Victoria, NSW, and interstate and would welcome expressions of interest from families with children who might be suitable for this trial.

The Inclusion criteria are:

Boys with DMD aged 7-16 inclusive

Gene sequencing showing a nonsense (stop mutation) in dystrophin. Boys with deletions or duplications are not suitable for this study.

Boys whose mutations are not currently known may be suitable for the study but might need further testing before we could be sure of this.

Steroid treatment for at least 6 months prior to recruitment into study, having been on a stable dose for 3 months

Able to complete 150m on a 6-minute walk test, the distance walked on the 6MWT must be less than 80% normally predicted for age. This is make sure that boys included in the study are quite symptomatic, which maximises the chances of proving effectiveness of the medication.

Exclusion criteria are:

Treatment with systemic aminoglycosides (Gentamicin or tobramycin) in the 3 months before enrolment

Change in mediations for cardiac failure within 3 m of enrolment

Exposure to other investigational drugs within 3 months

Current participation in other clinical trials

Treatment with warfarin or dilantin

Expectation of need for scoliosis surgery within 12 months of enrolment

Families interested in knowing more about the study are invited to contact Daniella Villano [03 9345  4633 or Daniella.villano@rch.org.au] in Victoria, or Carleen Fernandez [02 9845 1328 or carleen.fernandez@health.nsw.gov.au] in NSW